KLHL42 (kelch like family member 42)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 57542
Gene name Kelch like family member 42
Gene symbol KLHL42
Synonyms (NCBI Gene)
Ctb9KLHDC5
Chromosome 12
Chromosome location 12p11.22
miRNA miRNA information provided by mirtarbase database.
403
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (403)
miRTarBase ID miRNA Experiments Reference
MIRT003852 hsa-miR-1-3p Microarray 15685193
MIRT016145 hsa-miR-615-3p Sequencing 20371350
MIRT019582 hsa-miR-340-5p Sequencing 20371350
MIRT003852 hsa-miR-1-3p Microarray 18668037
MIRT025204 hsa-miR-181a-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IDA 19261606
GO:0004842 Function Ubiquitin-protein transferase activity IDA 19261606
GO:0005515 Function Protein binding IPI 16189514, 19261606, 25416956, 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618919 29252 ENSG00000087448
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P2K6
Protein name Kelch-like protein 42 (Cullin-3-binding protein 9) (Ctb9) (Kelch domain-containing protein 5)
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL42) E3 ubiquitin ligase complex mediates the ubiquitination and subsequent degradation of KATNA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07707 BACK 130 → 172 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 290 → 331 Kelch motif Repeat
Sequence 
MSAEEMVQIRLEDRCYPVSKRKLIEQSDYFRALYRSGMREALSQEAGGPEVQQLRGLSAP
GLRLVLDFINAGGAREGWLLGPRGEKGGGVDEDEEMDEVSLLSELVEAASFLQVTSLLQL
LLSQVRLNNCLEMYRLAQVYGLPDLQEACLRFMVVHFHEVLCKPQFHLLGSPPQAPGDVS
LKQRLREARMTGTPVLVALGDFLGGPLAPHPYQGEPPSMLRYEEMTERWFPLANNLPPDL
VNVRGYGSAILDNYLFIVGGYRITSQEISAAHSYNPSTNEWLQVASMNQKRSNFKLVAVN
SKLYAIGGQAVSNVECYNPEQDAWNFVAPLPNPLAEFSACECKGKIYVIGGYTTRDRNMN
ILQYCPSSDMWTLFETCDVHIRKQQMVSVEETIYIVGGCLHELGPNRRSSQSEDMLTVQS
YNTVTRQWLYLKENTSKSGLNLTCALHNDGIYIMSRDVTLSTSLEHRVFLKYNIFSDSWE
AFRRFPAFGHNLLVSSLYLPNKAET
Sequence length 505
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (5)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Degenerative polyarthritis Arthritis BEFREE 29882636
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 30907055 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 29412141 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 23457408, 25951451
★★★★★
★☆☆☆☆
Found in Text Mining only
Mycosis Fungoides Mycosis fungoides Pubtator 36400759 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoarthritis of hip Osteoarthritis Of Hip BEFREE 29882636
★★★★★
★☆☆☆☆
Found in Text Mining only
Scleroderma Systemic Systemic sclerosis Pubtator 32071084 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sezary Syndrome Sezary Syndrome BEFREE 18033314
★★★★★
★☆☆☆☆
Found in Text Mining only
Sezary Syndrome Sezary syndrome Pubtator 36400759 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only